Table 1.

Genetic and neurologic findings in individuals with rare PPFIA3 variants and neurodevelopmental disorders

Individual	1	2	3	4	5	6	7	8	9	10
Family	F1	F2	F3	F4	F5	F5	F6	F7	F8	F9
cDNA (GenBank: NM_003660.4)	c.115C>T	c.115C>T	c.118G>A	c.239A>C	c.240+1G>A	c.240+1G>A	c.943G>T	c.1243C>T	c.1243C>T	c.1285C>T
Protein (GenBank: NP_003651.1)	p.Arg39Cys	p.Arg39Cys	p.Glu40Lys	p.Gln80Pro	N/A	N/A	p.Ala315Ser	p.Arg415Trp	p.Arg415Trp	p.Arg429Trp
Human reference genome	GRCh37 (hg19)	GRCh37 (hg19)	GRCh37 (hg19)	GRCh37 (hg19)	GRCh37 (hg19)	GRCh37 (hg19)	GRCh37 (hg19)	GRCh37 (hg19)	GRCh37 (hg19)	GRCh37 (hg19)
Variant inheritance	de novo	de novo	not from mother; father unavailable for testing	unknown	inherited from affected mother (individual 6)	unknown	de novo	de novo	unknown	de novo
gnomAD (v.2.1.1)	not present	not present	not present	not present	not present	not present	not present	not present	not present	not present
Mosaicism	no	no	no	no	no	no	no	no	no	yes
Sex	male	male	female	female	female	female	female	female	female	female
Age at most recent assessment	16 years	13 years	22 years	1 year and 10 months	5 years	35 years	neonatal	8 years	10 years and 9 months	N/A
Racial and ethnic categories (NIH)	White	family declined to answer	White	White	White	White	Latino	mixed European and Asian	Asian	White
Status	alive	alive	alive	alive	alive	alive	deceased	alive	alive	elective pregnancy termination
Abnormal EEG	yes	yes	yes	N/A	N/A	N/A	N/A	yes	yes	N/A
Epilepsy	yes	yes	yes	no	no	no	N/A	yes	N/A	N/A
Autism or autistic features	no	no	no	suspected	no	N/A	N/A	autistic features	autistic features	N/A
Dysmorphisms	yes	yes	yes	yes	yes	yes	yes	yes	yes	N/A

Individual	11	12	13	14	15	16	17	18	19	20
Family	F10	F11	F12	F13	F13	F14	F15	F16	F17	F18
cDNA (GenBank: NM_003660.4)	c.1492C>T	c.1638G>T	c.2350C>T	c.2609T>A	c.2609T>A	c.2706dup	c.2717C>T	c.3307del	deletion exons 22–30	c.[2377C>A]; [c.2276A>G]
Protein (GenBank: NP_003651.1)	p.Arg498Trp	p.Trp546Cys	p.Arg784Trp	p.Ile870Asn	p.Ile870Asn	p.Ser903Leu fs∗86	p.Ser906Leu	p.Glu1103Asnfs∗8	N/A	p.[Pro793Thr]; p.[Lys759Arg]
Human reference genome	GRCh37 (hg19)	GRCh37 (hg19)	GRCh37 (hg19)	GRCh37 (hg19)	GRCh37 (hg19)	GRCh37 (hg19)	GRCh37 (hg19)	GRCh37 (hg19)	GRCh38 (hg38)	GRCh37 (hg19)
Variant inheritance	de novo	de novo	de novo	de novo (monozygotic twin of individual 15)	de novo monozygotic twin of individual 14)	unknown	de novo	unknown	inherited, affected mother	inherited from unaffected mother and father
gnomAD (v.2.1.1)	not present	not present	frequency of 3.19 × 10−5 (1/31,386)	not present	not present	not present	not present	not present	N/A	p.Pro793Thr frequency of 7.61 × 10−4 (215/282,366); p.Lys759Arg frequency of 4.77 × 10−5 (13/282,880)
Mosaicism	no	no	no	no	no	N/A	no	no	N/A	none
Sex	male	male	female	female	female	male	female	female	male	male
Age at most recent assessment	6 years and 11 months	11 years	16 years	5 years	5 years	23 years	13 years and 11 months	9 years and 9 months	7 years and 8 months	9 years
Racial and ethnic categories (NIH)	Asian	White	White	White	White	White	White	White	White	White
Status	alive	alive	alive	alive	alive	alive	alive	alive	alive	alive
Abnormal EEG	N/A	no	yes	N/A	N/A	N/A	yes	yes	no	yes
Epilepsy	no	no	yes	no	no	N/A	no	no	no	yes
Autism or autistic features	yes, autistic features improved over last few years	yes	no	yes	no	autistic features	yes	no	N/A	autistic features
Dysmorphisms	Yes	no	no	no	no	N/A	yes	yes	yes	yes

Abbreviations: electroencephalogram (EEG), no information available (N/A).